Genetic counseling
- Family history and pedigree
- Clinical frame for inherited risk
- Explanation before and after testing
- Information for relatives
What Does Medical Genetics Cover?
Medical genetics relates changes in DNA, genes and chromosomes to the health of a person and a family. Common reasons for referral:
Hereditary disease
- Single-gene conditions
- Chromosome disorders
- Familial Mediterranean fever and MEFV
- Recurrent clinical pictures
Cancer genetics
- Familial breast and ovarian cancer history
- BRCA and other predisposition genes
- Assessment of inherited cancer risk
- Reading of existing panel reports
Prenatal and reproductive genetics
- Preconception counseling
- Carrier-screen interpretation
- Prenatal test results
- Recurrent pregnancy loss
Carrier status
- Couple carrier assessment
- A known familial mutation
- Common inherited conditions
- What a result means for family planning
Rare disease
- Osteogenesis imperfecta
- Connective tissue and skeletal dysplasia
- Unexplained multisystem findings
- Rare gene disorders
Neurogenetics and development
- Suspected developmental delay
- Fragile X–related assessment
- Familial neurological disease
- Suspected childhood genetic syndromes
Test interpretation
- Molecular genetic reports
- Karyotype and chromosome analysis
- Clinical meaning of a variant
- Second-opinion review of reports